ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1518del (p.Arg507fs)

dbSNP: rs80357947
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111639 SCV000299614 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000166974 SCV000217795 pathogenic Hereditary cancer-predisposing syndrome 2014-12-04 criteria provided, single submitter clinical testing The c.1518delG pathogenic mutation (also known as 1637delG), located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at position 1518, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175075 SCV001338633 pathogenic Hereditary breast ovarian cancer syndrome 2020-04-07 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.1518delG (p.Arg507AspfsX25) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250932 control chromosomes (gnomAD). c.1518delG has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Bhaskaran_2019, Momozawa_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. An expert panel (ENIGMA) (evaluation after 2014) cites the variant as pathogenic in ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111639 SCV000144122 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.